Multiple improvements to standard WES analyses to ensure higher standards in quality and performance.
Major clinical utility: maximized diagnostic yield in patients with rare diseases.
Best-in-class WES diagnostic tool: mean sequencing coverage 174x, and ≥99.4% of base pairs (bp) covered at ≥20x.
Comprehensive, transparent and traceable analytic validation.
Improved coverage of challenging genes (e.g. PKD1, RPGR [ORF 15], GBA) and identification of 1,501 clinically relevant non-coding variants.
Comprehensive and high quality interpretation by rare disease expert team of PhD geneticists, certified geneticists and clinical consultants.
Comprehensive and customer friendly reports.
- Complex phenotypes with multiple differential diagnoses
- Genetically heterogeneous disorders
- Suspected genetic disorders where a specific genetic test is not available
- Inconclusive previous genetic testing
We accept blood, saliva, and isolated DNA samples. Simplified test requisition through secure portal, Nucleus, or by paper.
High-quality exome capture technology and NGS methods to obtain deep and uniform clinical-grade WES data.
3. Analysis and interpretation
Proprietary automated bioinformatics processes to rapidly and reliably produce clinically relevant information from the sequencing data.
4. Clinical statement
A team of geneticists and specialized clinicians interpret the results utilizing information from latest publications and databases to produce a comprehensive clinical statement. Through our online portal, clinicians have full transparent access to their individual patients’ performance and quality data. Data return in BAM and VCF formats available for a fee upon request.
Whole Exome Plus
Whole Exome Plus includes high-quality Whole Exome sequence analysis of single patient cases, coupled with Whole Exome Deletion/
Duplication analysis. Deletion/Duplication analysis enables detection of copy-number variants.
Whole Exome Family Plus
Whole Exome Family Plus includes high-quality Whole Exome sequence analysis of an index patient and parents (trio) or other family members, coupled with Whole Exome Deletion/Duplication analysis of the index patient. Whole Exome Family Plus is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.